Human sex chromosome mutation

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Disorders of the sex chromosome like disorders of the autosomes can be either numerical or structural, and can be present in all cells or in a mosaic form. Clinical indications that should raise suspicions of a sex chromosome abnormality are:. These disorders are considered very common with incidence of about —

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Many separate-sexed organisms have sex chromosomes controlling sex determination. Sex chromosomes often have reduced recombination, specialized frequently sex-specific gene content, dosage compensation and heteromorphic size. Research on sex determination and sex chromosome evolution has increased over the past decade and is today a very active field.

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In addition, the African samples show more variability in their mtDNA than do those of other continents,…. Females have two copies of the X chromosome, but males have an X and a Y chromosome. Because males have only one copy of the X chromosome, any mutation occurring in a gene on this chromosome will be expressed in male offspring regardless….

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In species with sex chromosomes, differences between genomic regions with unique inheritance patterns can be used to distinguish between different sets of possible demographic and selective events. This review introduces the differences in population history for sex chromosomes and autosomes, provides the expectations for genetic diversity across the genome under different evolutionary scenarios, and gives an introductory description for how deviations in these expectations are calculated and can be interpreted. Predominantly, diversity on the sex chromosomes has been used to explore and address three research areas: 1 Mating patterns and sex-biased variance in reproductive success, 2 signatures of selection, and 3 evidence for modes of speciation and introgression. Further, general patterns of reduced diversity in nonrecombining regions are shared across plants and animals.

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In the first evolutionary study of the chromosome associated with being female, University of California, Berkeley, biologist Doris Bachtrog and her colleagues show that the history of the X chromosome is every bit as interesting as the much-studied, male-determining Y chromosome, and offers important clues to the origins and benefits of sexual reproduction. Not all animals and plants employ genes to determine if an embryo becomes male or female. Many reptiles, for example, rely on environmental cues such as temperature to specify male or female.

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Sex chromosome abnormalities may be caused by full or partial deletions or duplications of sex chromosomes. Chromosomes are structures within cells that contain DNA and many genes. A gene is a segment of deoxyribonucleic acid DNA and contains the code for a specific protein that functions in one or more types of cells in the body see Genes and Chromosomes for a discussion about genetics.

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The Y chromosome is one of two sex chromosomes. Humans and other mammals have two sex chromosomes, the X and the Y. Females have two X chromosomes in their cells, while males have X and Y chromosomes in their cells.

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HHMI is a science philanthropy whose mission is to advance basic biomedical research and science education for the benefit of humanity. HHMI empowers exceptional scientists and students to pursue fundamental questions in basic science. Genetic sequencing and analysis reveals smaller than expected difference in mutation rates of the X and Y chromosomes. Genetic sequencing and analysis of regions of the X and Y chromosomes of humans, chimpanzees and gorillas, reveals a much smaller difference in mutation rates of the two sex-determining chromosomes, say researchers from the Howard Hughes Medical Institute at the Massachusetts Institute of Technology.

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Stronger focus on nutrition within health services could save 3. Humans are born with 46 chromosomes in 23 pairs. Most women are 46XX and most men are 46XY.

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